| Metadata | |
|---|---|
| ID | DOID:0111591 |
| Name | congenital heart defects, hamartomas of tongue, and polysyndactyly |
| Definition | A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. https://www.ncbi.nlm.nih.gov/pubmed/25427950, https://www.ncbi.nlm.nih.gov/pubmed/1516223 |
| Xrefs |
SNOMEDCT_US_2023_03_01:783738002 |
| Subsets |
DO_rare_slim |
| Synonyms |
CHDTHP [EXACT] heart defect-tongue hamartoma-polysyndactyly syndrome [EXACT] Ostravik-Lindemann-Solberg syndrome [EXACT] |
| Parent Relationships |
is_a syndrome is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |